Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:119769254..119771036-chr5:119773578..119776402,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1503926	0.82[EUR][1000 genomes]
rs17146582	0.82[AFR][1000 genomes]
rs17146596	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146610	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146612	1.00[EUR][1000 genomes]
rs17146625	0.93[EUR][1000 genomes]
rs1835869	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60019001	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60263195	0.93[EUR][1000 genomes]
rs6595230	1.00[EUR][1000 genomes]
rs6595231	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6887795	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6891906	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73783447	0.93[EUR][1000 genomes]
rs73784935	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784937	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73784938	1.00[EUR][1000 genomes]
rs73785926	0.93[EUR][1000 genomes]
rs73785931	0.93[EUR][1000 genomes]
rs73785936	0.93[EUR][1000 genomes]
rs73785937	1.00[EUR][1000 genomes]
rs73785938	0.93[EUR][1000 genomes]
rs7712011	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1018955	chr5:119679918-119802014	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1020655	chr5:119729801-119781762	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1018100	chr5:119749898-119802014	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119742000-119775000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:119766800-119775600	Weak transcription	Psoas Muscle	Psoas
3	chr5:119767800-119770200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:119768200-119770800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr5:119768400-119770200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr5:119769200-119769800	Weak transcription	HSMMtube	muscle
7	chr5:119769200-119780800	Weak transcription	HSMM	muscle

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